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Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

Becker muscular dystrophy (BMD) is caused by specific mutations in the DMD gene that causes progressive muscle weakness and primarily affects skeletal and cardiac muscle. Although cardiac involvement is a significant cause of mortality in BMD, the genetic–phenotype correlation for skeletal and cardi...

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Dades bibliogràfiques
Publicat a:J Hum Genet
Autors principals: Komaki, Ryouhei, Hashimoto, Yasumasa, Mori-Yoshimura, Madoka, Oya, Yasushi, Takizawa, Hotake, Minami, Narihiro, Nishino, Ichizo, Aoki, Yoshitsugu, Takahashi, Yuji
Format: Artigo
Idioma:Inglês
Publicat: Springer Singapore 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7449875/
https://ncbi.nlm.nih.gov/pubmed/32504006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0788-9
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